Test Directory

Genes Tested: ACVRL1, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6(HPS9), DTNBP1(HPS7), ENG, EPHB4, F2, F5, F7, F8, F9, F10, F11, F13A1, F13B, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1(FYB), GATA1, GDF2, GFI1B, GGCX, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, KDSR, LMAN1, LYST, MCFD2, NBEA, NBEAL2, P2RY12, PLA2G4A, PLAU, PRKACG, RASA1, RASGRP2, RUNX1, SERPINA1§, SERPINE1, SERPINF2, SLFN14, SMAD4, SRC, STIM1, TBXA2R, TBXAS1, VIPAS39, VKORC1, VPS33B, VWF.

This panel is designed for the detection of germline variants in 66 genes and one targeted variant by aCGH known to cause bleeding due to disorders of coagulation, platelet function, and/or hereditary hemorrhagic telangiectasia (HHT). It can be ordered as NGS only (Includes PLAU performed by aCGH) or NGS with reflex to aCGH.

Specimen Type: Whole Blood

Preferred Collection Container: Lavender Top (EDTA)

Alternate Collection Container: Pale Yellow Top (ACD Solution A or B)

Desired Specimen Volume: 5 mL

1. Collect 2 lavender top (EDTA) tubes via venipuncture.

A Hematology Genetics Test Requisition Form is required for testing.

1. Transport 5 mL of whole blood in the original collection containers.

Transport to the laboratory refrigerated.

See patient report.

For NGS with reflex to aCGH, the reflex is cancelled if a pathogenic variant is found (report will be signed out as NGS only). The aCGH reflex will be performed if a variant is not found, or the variants found were classified as VUS/likely benign/benign.